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New medical treatment for adult patients with spinal muscular atrophy in PUMCH
CopyFrom: PUMCH UpdateTime: 2019-11-27 Hits: 39 Font Size: SmallBig

Ultrasound-guided intrathecal administration of nusinersen was performed for two adult patients with spinal muscular atrophy (SMA) in Peking Union Medical College Hospital (PUMCH) recently. The disease conditions were stable after the treatment in both patients. This was the first attempt in China to treat adult SMA patients with intrathecal administration and also the first attempt to use ultrasound-based visualization technology for intrathecal injection.

Compared with infants and young children, adults are more difficult to receive intrathecal injection of drugs, along with higher uncertainty and risk. The success of this new treatment strategy shed new light on the treatment of adult SMA patients.

SMA is a rare hereditary neuromuscular disease leading to infant mortality. Nusinersen is the first drug approved by US FDA for SMA treatment. It became available in China at the beginning of 2019 through the priority review and approval process for rare diseases and was officially used for treating Chinese patients in October.

These two adult patients treated in PUMCH included a 34-year-old woman and a 28-year-old man who developed SAM when they were 1 and a half years and 3 months old, respectively. They have been wheelchair-bound for more than 20 years and currently only their upper limbs could move within a limited range. In addition, they suffered from severe scoliosis.

In PUMCH, a multidisciplinary approach was applied for these two patients. First, a thorough examination was performed to assess the possible puncture approaches. Subsequently, experts from the departments of neurology, radiology, anesthesiology, physical rehabilitation, gastroenterology, respiratory medicine, general surgery, orthopedics, cardiology, ultrasound medicine, and pharmacy as well as professionals from other hospitals were invited to discuss the diagnosis and treatment options. On the afternoon of the same day, ultrasound-guided lumbar puncture and intrathecal administration of nusinersen was successfully performed for these two patients in the outpatient operating room. During the treatment, since the patients were completely unable to maintain a stable position, they were supported by the medical staff to receive the treatment. The anesthesiologists repeatedly and patiently searched for the optimal puncture approaches for the patients and finally found the best puncture paths in the severely deformed intervertebral spaces, where the extremely difficult drug administration was completed.

“Although lumbar puncture is a routine procedure,” said Dai Yi, a neurologist at PUMCH, “it could not be routinely performed in these two patients due to severe scoliosis after long-term progression of the disease. Ultrasound-guided lumbar puncture was also challenging, although it finally succeeded at an unconventional location through a special angle. Although intrathecal treatment in adult patients has been desribed in foreign literatre, ultrasound-guided intrathecal administration has not been reported."

Multidisciplinary consultations for the patients  (Photo: Department of Neurology)